Canonical Allele Identifier: CA2815519198
Gene: KIZ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.21136573_21136574insGGGGGGAGGT , CM000682.2:g.21136573_21136574insGGGGGGAGGT GRCh38
NC_000020.10:g.21117214_21117215insGGGGGGAGGT , CM000682.1:g.21117214_21117215insGGGGGGAGGT GRCh37
NC_000020.9:g.21065214_21065215insGGGGGGAGGT NCBI36
NG_033122.1:g.15591_15592insGGGGGGAGGT
NG_033122.2:g.15594_15595insGGGGGGAGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000619189.5:c.315+21_315+22insGGGGGGAGGT MANE Select ENSP00000479542.1:n.315+21_315+22insGGGGGGAGGT
ENST00000611685.4:c.167-8992_167-8991insGGGGGGAGGT
ENST00000616848.4:c.6+4414_6+4415insGGGGGGAGGT ENSP00000480612.1:n.6+4414_6+4415insGGGGGGAGGT
ENST00000619189.4:c.315+21_315+22insGGGGGGAGGT ENSP00000479542.1:n.315+21_315+22insGGGGGGAGGT
ENST00000619574.4:c.169-8992_169-8991insGGGGGGAGGT ENSP00000484706.1:n.169-8992_169-8991insGGGGGGAGGT
ENST00000620553.2:n.371+21_371+22insGGGGGGAGGT
ENST00000620891.4:c.6+4414_6+4415insGGGGGGAGGT ENSP00000478019.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001163022.1:c.6+4414_6+4415insGGGGGGAGGT NP_001156494.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001163023.1:c.6+4414_6+4415insGGGGGGAGGT NP_001156495.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001276389.1:c.169-8992_169-8991insGGGGGGAGGT NP_001263318.1:n.169-8992_169-8991insGGGGGGAGGT
NM_018474.4:c.315+21_315+22insGGGGGGAGGT NP_060944.3:n.315+21_315+22insGGGGGGAGGT
XM_011529296.1:c.315+21_315+22insGGGGGGAGGT XP_011527598.1:n.315+21_315+22insGGGGGGAGGT
XM_011529297.1:c.315+21_315+22insGGGGGGAGGT XP_011527599.1:n.315+21_315+22insGGGGGGAGGT
XM_011529298.1:c.315+21_315+22insGGGGGGAGGT XP_011527600.1:n.315+21_315+22insGGGGGGAGGT
XM_011529299.1:c.6+4414_6+4415insGGGGGGAGGT XP_011527601.1:n.6+4414_6+4415insGGGGGGAGGT
XR_937105.1:n.439+21_439+22insGGGGGGAGGT
NM_001163022.2:c.6+4414_6+4415insGGGGGGAGGT NP_001156494.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001163023.2:c.6+4414_6+4415insGGGGGGAGGT NP_001156495.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001276389.2:c.169-8992_169-8991insGGGGGGAGGT NP_001263318.1:n.169-8992_169-8991insGGGGGGAGGT
NM_001352434.1:c.315+21_315+22insGGGGGGAGGT NP_001339363.1:n.315+21_315+22insGGGGGGAGGT
NM_001352435.1:c.6+4414_6+4415insGGGGGGAGGT NP_001339364.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001352436.1:c.-72+21_-72+22insGGGGGGAGGT NP_001339365.1:n.-72+21_-72+22insGGGGGGAGGT
NM_018474.5:c.315+21_315+22insGGGGGGAGGT NP_060944.3:n.315+21_315+22insGGGGGGAGGT
XM_011529296.3:c.315+21_315+22insGGGGGGAGGT XP_011527598.1:n.315+21_315+22insGGGGGGAGGT
XM_011529297.3:c.315+21_315+22insGGGGGGAGGT XP_011527599.1:n.315+21_315+22insGGGGGGAGGT
XM_011529299.3:c.6+4414_6+4415insGGGGGGAGGT XP_011527601.1:n.6+4414_6+4415insGGGGGGAGGT
XM_017027951.2:c.-72+21_-72+22insGGGGGGAGGT XP_016883440.1:n.-72+21_-72+22insGGGGGGAGGT
XM_017027952.2:c.6+4414_6+4415insGGGGGGAGGT XP_016883441.1:n.6+4414_6+4415insGGGGGGAGGT
XR_001754334.2:n.381+21_381+22insGGGGGGAGGT
XR_937105.3:n.381+21_381+22insGGGGGGAGGT
NM_018474.6:c.315+21_315+22insGGGGGGAGGT MANE Select NP_060944.3:n.315+21_315+22insGGGGGGAGGT
NM_001163022.3:c.6+4414_6+4415insGGGGGGAGGT NP_001156494.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001163023.3:c.6+4414_6+4415insGGGGGGAGGT NP_001156495.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001352434.2:c.315+21_315+22insGGGGGGAGGT NP_001339363.1:n.315+21_315+22insGGGGGGAGGT
NM_001352435.2:c.6+4414_6+4415insGGGGGGAGGT NP_001339364.1:n.6+4414_6+4415insGGGGGGAGGT
NM_001352436.2:c.-72+21_-72+22insGGGGGGAGGT NP_001339365.1:n.-72+21_-72+22insGGGGGGAGGT